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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/253200
http://purl.bioontology.org/ontology/OMIM/253200
|
|---|---|
| Preferred Name | MUCOPOLYSACCHARIDOSIS, TYPE VI |
| Synonyms |
N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
MAROTEAUX-LAMY SYNDROME
ARYLSULFATASE B DEFICIENCY
MPS VI
MPS6
ARSB DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
MAROTEAUX-LAMY SYNDROME
ARYLSULFATASE B DEFICIENCY
MPS VI
MPS6
ARSB DEFICIENCY
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|
|---|---|
| prefLabel | MUCOPOLYSACCHARIDOSIS, TYPE VI
|
| Gene Symbol |
ARSB
MPS6
|
| Scope Statement | Survival to 20 years in severe form [MISCELLANEOUS]
Caused by mutation in the arylsulfatase B gene (ARSB, 611542.0001) [MOLECULAR BASIS]
Mild to severe forms of disease [MISCELLANEOUS]
Incidence ranges from 1 in 238,095 to 1 in 300,000 births [MISCELLANEOUS]
Prenatal diagnosis available [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q11-q13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 253200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0026709
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |